[Genetic Counselor]

Several DMD-specific drugs are approved abroad (mainly US FDA) but are not yet approved by CDSCO for the Indian market as of 2026. Listing them here so members don’t confuse “FDA-approved” with “available in India”:

Eteplirsen (Exondys 51) – Exon 51 skipping ASO, FDA accelerated approval (Sarepta).
Golodirsen (Vyondys 53) and Casimersen (Amondys 45) – Exon 53 and Exon 45 skipping ASOs (Sarepta).
Viltolarsen (Viltepso) – Exon 53 skipping ASO.
Delandistrogene moxeparvovec (Elevidys / SRP-9001) – AAV-based micro-dystrophin gene therapy, FDA-approved.
Ataluren (Translarna) – for nonsense-mutation DMD, approved in some markets (not FDA).

Status in India: None currently carry CDSCO marketing approval. Patients/families sometimes explore compassionate-use import licenses via DCGI, but this is costly, case-by-case, and not a substitute for a locally registered trial. Please don’t post anecdotal “it worked for someone I know” claims here without a source — start a separate thread in the support section for personal experiences.

References:

FDA-approved antisense oligonucleotide therapies for DMD: current status and future outlook, https://www.tandfonline.com/doi/full/10.1080/15476286.2026.2689117
FDA Approves SRP-9001 as First Gene Therapy for DMD, https://www.neurologylive.com/view/fda-approves-srp-9001-first-gene-therapy-for-duchenne-muscular-dystrophy

[Genetic Counselor]

Not yet in human trials, but worth tracking since these could move to CTRI-registered studies:

Intas Pharmaceuticals (Centre for Cell & Gene Therapy) – preclinical AAV and lentiviral vector development targeting DMD, alongside Hemophilia A/B, SMA, β-thalassemia, and Sickle Cell Disease.
Reliance Life Sciences – preclinical autologous/allogeneic cell therapy and viral vector platforms (primarily ocular and hematopoietic disorders currently, but part of the same domestic gene-therapy manufacturing base that could extend to DMD).
Micro CRISPR Private Limited – gene-editing research platforms for rare monogenic conditions and diagnostics.

Domestic CAR-T success (NexCAR19, developed by ImmunoACT/IIT Bombay, CDSCO-approved) is frequently cited as proof that India’s regulatory and manufacturing ecosystem can support advanced cell/gene therapies, this is part of why analysts expect DMD-directed gene therapy trials to follow.

References:

Recent developments in gene therapy research in India, https://www.ias.ac.in/article/fulltext/jbsc/049/0037

[Genetic Counselor]

Sponsor: Dystrophy Annihilation Research Trust (DART India), Bengaluru — India’s first dedicated DMD research lab, founded in 2012.
Overall Lead: Dr. Surinder Kher
Scientific Contact: Dr. Arun Shastry
CTRI ID: CTRI/2021/04/032498

What it is: An indigenously developed 2′-O-Methyl Antisense Oligonucleotide (ASO) designed for exon skipping — targeting Exon 45, 51, or 53 depending on the patient’s specific deletion mutation. The ASO binds splice donor/acceptor sites on the pre-mRNA, causing the spliceosome to skip the mutated exon. This restores the reading frame, allowing production of a shortened but partially functional dystrophin protein (converting a severe frameshift phenotype into a milder in-frame one).

Trial design: 48-week randomized, double-blind, placebo-controlled trial, followed by a 24-week open-label extension.
Eligibility: Male, ambulant, ages 5–25, with a deletion amenable to Exon 45/51/53 skipping (genetic confirmation required).
Primary endpoints: 6-Minute Walk Test (6MWT) distance and North Star Ambulatory Assessment (NSAA) score.
Sites: Reported to span 9 hospitals across 8 cities including Bengaluru, Delhi, Hyderabad, Pune, Jaipur, and Bhopal.

Update: DART India signed a Memorandum of Understanding with GenAssist Ltd to accelerate clinical development of this DMD therapy — a sign the program is moving toward expanded/accelerated trials. Members should watch for updated CTRI status.

How to inquire: DART India, Bengaluru — Ph: +91-80-2341-2725 / +91-98801-12725.
Also offers counseling, medical advisory, and rehab support independent of trial enrollment.

References:

CTRI record, https://ctri.nic.in/Clinicaltrials/showallp.php?mid1=53212&EncHid=&userName=Duchenne+Muscular+Dystrophy
DART India profile, https://www.karnataka.com/ngos/dart-dystrophy-annihilation-research-trust/
GenAssist–DART MoU announcement, https://www.genassisttx.com/newsroom/P02601070

[Genetic Counselor]

Duchenne Muscular Dystrophy (DMD) is an X-linked recessive disorder caused by loss-of-function mutations in the DMD gene, which disrupts dystrophin protein production in skeletal and cardiac muscle. It is one of the most common and severe forms of muscular dystrophy in children, almost always affecting boys.

Burden in India: India is estimated to have 400,000–500,000 children living with DMD, against a global incidence of roughly 1 in 3,600 male births. Awareness, early genetic diagnosis, and access to advanced therapies remain significant challenges – cost, infrastructure, and lack of specialist centers are the biggest barriers cited by clinicians.

Regulatory pathway for any DMD trial run in India:

CDSCO / DCGI – apex authority granting clinical trial permission, test licenses, and import/export permits (via the Sugam portal).
Review Committee on Genetic Manipulation (RCGM), under the Dept. of Biotechnology – reviews preclinical safety, vector shedding studies, and gene-therapy-specific risks.
Subject Expert Committees (SEC)– evaluate trial design and risk-benefit before DCGI sign-off.
Institutional Ethics Committees (IEC) / Institutional Biosafety Committees (IBSC) – local oversight, informed consent, biosafety.
CTRI (Clinical Trials Registry – India), hosted by ICMR – registration here is legally mandatory before enrollment starts. Always check a trial’s CTRI number before trusting it.

References:

Status of Clinical Care of DMD: Global Perspective and Situation in India, Indian Journal of Pediatrics (2025), https://link.springer.com/article/10.1007/s12098-025-05975-z
National Guidelines for Gene Therapy Product Development and Clinical Trials, ICMR, https://www.icmr.gov.in/icmrobject/custom_data/pdf/resource-guidelines/guidelines_GTP.pdf
CTRI, https://ctri.nic.in

[Genetic Counselor]

Despite being the diagnostic standard, tissue biopsy has real limitations that patients and clinicians need to consider:

Invasiveness and risk: As a procedure involving needles, surgery, or endoscopy, it carries risks such as bleeding, infection, pain, and, depending on the site, risks specific to the organ being sampled
Limited to one location: A tissue biopsy samples only the specific site from which it is taken, which may not reflect the full genetic picture of a tumor if the cancer is heterogeneous or has spread to other areas, an issue known as tumor heterogeneity
Not always repeatable: Because it is invasive, it is difficult to repeat frequently to monitor how a cancer is responding to treatment over time, unlike a blood-based liquid biopsy
Accessibility challenges: Some tumors are located in areas that are difficult or dangerous to reach with a needle or surgical instrument, making biopsy technically challenging or risky
Insufficient sample size: Sometimes the amount of tissue collected is too small to complete all necessary molecular and genetic testing, requiring a repeat procedure
Processing time: Tissue biopsy results, particularly detailed molecular and genetic testing, can take longer to process compared to some liquid biopsy panels, which may delay treatment decisions in urgent situations

[Genetic Counselor]

The results of a tissue biopsy directly shape the entire treatment pathway. Specific ways it changes clinical decision-making include:

Confirming or ruling out cancer: A biopsy result determines whether a patient proceeds toward cancer treatment at all, avoiding unnecessary therapy for benign conditions
Guiding treatment selection: Identifying the cancer type, grade, and specific gene mutations allows doctors to choose targeted therapies, chemotherapy regimens, or determine whether surgery or radiation is appropriate
Staging the disease: Tissue findings, combined with imaging, help doctors determine how advanced the cancer is, which affects treatment intensity and prognosis
Establishing a baseline for comparison: The original tissue biopsy result serves as a reference point against which future test results, including liquid biopsy results, can be compared
Confirming eligibility for clinical trials: Many clinical trials require specific molecular or genetic findings from tissue biopsy before a patient can enroll

[Genetic Counselor]

A tissue biopsy is typically recommended when imaging scans, blood tests, or physical examination findings suggest an abnormal growth or lesion that needs definitive diagnosis. It is considered the standard method for confirming a new cancer diagnosis.

It is most often used when:

*A lump, mass, or lesion is found on imaging, such as a computed tomography scan, magnetic resonance imaging scan, or mammogram, and needs to be classified as benign or malignant
*A patient has symptoms suggestive of cancer that require tissue confirmation before starting treatment
*Doctors need to determine the exact cancer type and molecular profile to plan targeted therapy, chemotherapy, or radiation
*There is a need to reassess a tumour’s characteristics after treatment, for example if a cancer appears to be progressing and doctors want to check whether it has changed at a molecular level
*Non-cancerous conditions, such as certain infections, autoimmune diseases, or organ conditions, need microscopic tissue confirmation for diagnosis

[Genetic Counselor]

A tissue biopsy allows direct microscopic examination of the actual cells in question, which makes it the definitive method for diagnosing cancer and many other diseases. It can identify:

*Whether a lesion is cancerous (malignant) or non-cancerous (benign)
*The specific type and subtype of cancer, based on how the cells look and behave
*The grade of the cancer, which reflects how abnormal the cells appear and how quickly they are likely to grow
*Gene mutations and molecular markers within the tumour, such as changes in EGFR, KRAS, BRAF, or HER2, which guide treatment selection
*Protein expression patterns on the surface of cells, tested through specialized staining techniques
The tissue architecture and how far abnormal cells have spread into surrounding structures, which a blood-based or fluid-based test cannot show

Because the pathologist is examining actual tissue structure, not just circulating fragments, a tissue biopsy also confirms the physical presence and exact location of disease, which is central to establishing an initial diagnosis.

[Genetic Counselor]

A tissue biopsy is a medical procedure in which a sample of cells or tissue is physically removed from the body so it can be examined under a microscope and tested in a laboratory. Unlike a liquid biopsy, which analyses fragments of tumour DNA circulating in blood or other body fluids, a tissue biopsy provides an actual piece of the tumour or suspicious tissue itself.

The sample can be obtained in several ways, depending on the location and accessibility of the tissue:

1. Needle biopsy: A thin or wide needle is inserted through the skin to withdraw a small core or sample of tissue, often guided by ultrasound or computed tomography imaging
2. Surgical biopsy: A surgeon removes part of the tissue (incisional) or the entire lump or lesion (excisional) through an operation
3. Endoscopic biopsy: A thin tube with a camera is passed into the body, such as through the mouth, airway, or digestive tract, to reach and sample tissue from internal organs
4. Bone marrow biopsy: A needle is used to draw a sample from inside the bone, typically the hip, to examine blood-forming tissue

Once collected, the tissue sample is processed, stained, and examined by a pathologist, and portions of it may also undergo genetic and molecular testing.

[Genetic Counselor]

Despite its advantages, liquid biopsy has real limitations that patients and clinicians need to understand:

*Sensitivity varies by cancer type and stage: Early-stage cancers or tumours that do not shed much genetic material into the bloodstream may not produce a detectable signal, leading to false-negative results
*It cannot always tell where the cancer is located in the body, unlike a tissue biopsy or imaging scan
It may miss mutations present only in certain parts of a tumour if those regions are not shedding material into the blood at detectable levels, an issue related to tumour heterogeneity
*Results can be affected by “clonal haematopoiesis,” a condition where blood-forming cells develop mutations unrelated to the cancer, which can sometimes be mistaken for tumour-derived mutations
*It is generally used alongside tissue biopsy and imaging rather than as a complete replacement, especially at the time of initial cancer diagnosis, when a full pathological confirmation from tissue is still considered the standard
*Cost and availability can vary, and not all liquid biopsy tests are validated for every cancer type or clinical situation

[Genetic Counselor]

The main value of liquid biopsy lies in guiding treatment decisions in real time, without requiring repeated invasive procedures. Specific ways it changes clinical care include:

*Selecting targeted therapy: If a liquid biopsy identifies a specific mutation, such as an EGFR mutation in lung cancer, doctors can select a matching targeted drug rather than defaulting to standard chemotherapy
*Detecting resistance early: If a patient’s cancer stops responding to a targeted drug, a liquid biopsy can reveal the new resistance mutation causing this, allowing doctors to switch to a different drug suited to that specific change
*Tracking treatment response: Rising or falling levels of circulating tumour DNA over the course of treatment can indicate whether a therapy is working, sometimes faster than waiting for the next imaging scan
*Detecting recurrence earlier: In some cancers, a liquid biopsy can pick up signs of returning cancer months before it becomes visible on a computed tomography scan or magnetic resonance imaging scan, allowing earlier intervention

[Genetic Counselor]

Liquid biopsy is most relevant for patients who already have a confirmed or suspected cancer diagnosis, particularly solid tumours such as lung, breast, colorectal, and prostate cancer. It is not currently a general cancer screening test for people without any cancer diagnosis or symptoms, though this use is being actively researched.

It is most useful in situations such as:

*When a tissue biopsy is not possible or too risky, for example if the tumour is in a hard-to-reach location or the patient’s health does not allow for a surgical procedure
*When there is not enough tissue material left from a previous biopsy to run additional genetic tests
*When a patient’s cancer has progressed on treatment and doctors need to check for new resistance mutations before choosing the next therapy
*When doctors want to monitor how well a patient is responding to treatment over time, through repeated blood draws
*When checking for early signs of cancer recurrence after treatment has ended

[Genetic Counselor]

A liquid biopsy primarily detects circulating tumour DNA, small fragments of genetic material released into the blood when tumours cells die or break down. It can also detect circulating tumours cells (whole cancer cells that have broken away from the tumours and entered the bloodstream) and, in some tests, tumour-derived exosomes (tiny particles released by cancer cells that carry genetic and protein material).

From these components, a liquid biopsy can identify:
*Specific gene mutations driving the cancer, such as changes in EGFR, KRAS, or BRAF
*Gene amplifications, such as HER2
*Resistance mutations that develop after a patient starts targeted therapy
*The overall amount of tumour DNA in the blood, which can reflect disease burden
*Early signs of cancer recurrence, sometimes before it is visible on imaging scans

[Genetic Counselor]

A liquid biopsy is a blood test that looks for fragments of genetic material and cells that a tumour has shed into the bloodstream. Instead of surgically removing a piece of the tumour itself, doctors draw a blood sample and analyse it for circulating tumour DNA, circulating tumour cells, and other tumour-related material floating in the blood.

A standard tissue biopsy involves a needle, surgical procedure, or endoscopic sampling to physically remove a piece of the tumour for laboratory examination. This gives a direct, detailed look at the tumour tissue but is invasive, carries procedural risk, and captures only the specific spot that was sampled.

A liquid biopsy is minimally invasive, requiring only a blood draw, and because tumours shed material from multiple sites into the bloodstream, it can reflect the genetic makeup of the cancer more broadly rather than just one location.

Blood is the standard sample because it’s easily accessible and tumours reliably shed genetic material, cells, and other components into the bloodstream, where they can be captured as circulating tumour DNA, circulating tumour cells, or tumour-derived exosomes. The term “liquid biopsy” broadly refers to testing any bodily fluid for tumour-derived material, but in clinical practice today, blood-based liquid biopsy is what is most validated, most widely offered, and most often meant when the term is used without further specification.

Other body fluids can also be used, depending on where the cancer is located:

*Urine is used in some bladder and prostate cancer applications, since tumour material from the urinary tract can shed directly into urine.
*Cerebrospinal fluid is used for brain tumours and cancers that have spread to the central nervous system, since brain tumour material does not cross into the bloodstream as reliably as it does with other organs.
*Pleural or peritoneal fluid, the fluid build-ups around the lungs or abdomen in advanced cancer, which can be tested when a patient already has fluid drained for symptom relief.
*Saliva is being explored, particularly for head and neck cancers, though less established in routine clinical use.

[Genetic Counselor]

Management is centred on genetic counselling and reproductive planning rather than any medical treatment of the carrier, since the carrier is not affected by disease. The following options are typically discussed:

1. Genetic counseling – the essential starting point. A genetic counselor or clinical geneticist reviews the specific chromosomes and breakpoints involved to estimate the individualised risk of an unbalanced outcome in future pregnancies, since this risk differs substantially from one translocation to another.
2. Prenatal diagnosis in an ongoing pregnancy – chorionic villus sampling (usually performed in the first trimester) or amniocentesis (usually performed from second trimester onwards) can be used to obtain fetal cells for karyotype analysis, allowing the couple to know whether the pregnancy has inherited a balanced, normal, or unbalanced chromosome pattern.
3. Preimplantation genetic testing for structural rearrangements – performed in conjunction with in vitro fertilisation. Embryos are created in the laboratory, and a small number of cells are biopsied and tested to identify which embryos are chromosomally balanced or normal before transfer to the uterus. This allows selection of embryos with the best chance of a successful, ongoing pregnancy while reducing the risk of miscarriage or an affected child.
4. Testing of extended family members – since a balanced translocation is often inherited from a parent who is also an unaffected carrier, siblings and other relatives of a known carrier may be offered testing, particularly if they are planning a family.
5. Donor gametes – in situations where the reproductive risk is very high or where repeated attempts have been unsuccessful, use of donor eggs or donor sperm may be discussed as an alternative path to a healthy pregnancy.

With appropriate counseling, monitoring, and the use of these reproductive technologies where needed, the large majority of balanced translocation carriers are able to achieve a healthy, successful pregnancy.

[Author]

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