Primary IGF-1 Deficiency Treatment in India: Symptoms, Diagnosis & Cost of Therapy

A child’s growth is one of the most visible markers of their health. When a child consistently falls far below expected height for age, it raises understandable concern for parents and clinicians alike. A rare but important cause of severe short stature is Primary Insulin-like Growth Factor-1 (IGF-1) Deficiency, which is also called Primary IGF-1 Deficiency (PIGFD).

This blog will explain Primary IGF-1 Deficiency, how it’s diagnosed, available treatments, and how patients and families in India can access Primary IGF-1 Deficiency treatment in India through the Named Patient Import pathways.

What Is Primary IGF-1 Deficiency?

• A good starting point for understanding Primary IGF-1 Deficiency is understanding how normal growth functions.
• The pituitary gland makes growth hormone (GH). It also causes the liver to produce Insulin-like Growth Factor-1 (IGF-1). IGF-1 is a major hormone that promotes tissue and bone growth. It works on growth plates and other target tissues to stimulate increases in height and physical development.
• Whenever there is growth hormone deficiency (GHD) in children, there is an absence in GH release and, subsequently, IGF-1 is also absent, causing growth failure.
• However, in Primary IGF-1 Deficiency (PIGFD), the situation is different. These children have normal or even elevated growth hormone levels, but their bodies cannot produce sufficient IGF-1. Because IGF-1 is the hormone that actually drives growth at the tissue level, low IGF-1 results in significant short stature — despite adequate GH levels.
• The term “primary” means there is no secondary cause, such as chronic illness, malnutrition, liver disease, or hormonal disorders, responsible for the low IGF-1 levels.

What Is Severe Primary IGF-1 Deficiency (SPIGFD)?

We can use some clinical info to help define some of the more severe forms of IGF-1 deficiency.

• Height Standard
• Deviation Score (SDS) ≤ -3.0
• IGF-1 concentration SDS ≤ -3.0
• Normal or increased growth hormone levels

SDS stands for Standard Deviation Score. It shows how far a child’s height or laboratory value is from the mean for that child’s age and sex. An SDS score that is negative means the value is below the population mean. An SDS score of -3.0 shows extreme short stature compared to peers.

Children with SPIGFD have very low levels of IGF-1, which is a hormone produced naturally in all humans, but they are short compared to other children of the same age.

Why Does Primary IGF-1 Deficiency Occur?

The most well-known cause of severe primary IGF-1 deficiency is Laron syndrome, a rare genetic disorder where a mutation occurs in the growth hormone receptor (GHR).
Here’s what happens:

• The production of growth hormone happens normally.
• However, the growth hormone receptor does not work properly.
• Because GH cannot effectively bind to its receptor, the liver does not produce sufficientIGF-1.
• Due to this, IGF-1 levels remain extremely low.

This condition makes the body resistant to growth hormone. In addition to Laron syndrome, other genetic abnormalities affecting the GH–IGF-1 pathway may also cause SPIGFD. Genetic testing is often recommended in suspected cases.

Signs and Symptoms of Primary IGF-1 Deficiency:

The most noticeable sign is extreme short stature.
Additional features may include:

• Slow growth rate (poor height velocity)
• Younger appearance relative to peers
• Low energy or fatigue
• Delayed skeletal maturation (delayed bone age)

Children with PIGFD usually have a normal range of intellectual development. The condition only affects the child’s growth; cognitive development is not affected.

How Is Primary IGF-1 Deficiency Diagnosed?

A pediatric endocrinologist must evaluate the patient. Diagnosis takes time because other reasons for short stature must be excluded.

• Detailed Medical History and Physical Examination: Each of the medical doctors evaluates the pattern of growth, the height of other relatives, and the condition of your general health.
• Growth Assessment: The doctor invariably tracks height measurements over time. When a child falls significantly in percentiles of height, questions and concerns are raised.
• Height Velocity Measurement: This is the measurement of height each year. This measurement is done each year.
• IGF-1 Blood Test: Low IGF-1 levels relative to age are a major diagnostic marker.
• Growth Hormone Stimulation Test: This confirms that GH levels are normal or elevated, differentiating PIGFD from Growth Hormone Deficiency.
• Bone Age Study: Each child undergoes an X-ray of the hand and/or wrist. This X-ray determines the degree of maturation of the skeleton.
• Imaging and Additional Testing: Specialized images and genetic tests are done to test for underlying conditions.

Only after excluding chronic diseases, malnutrition, endocrine disorders, or systemic illnesses can a diagnosis of Primary IGF-1 Deficiency be confirmed.

Primary IGF-1 Deficiency Treatment in India:

Growth Hormone (GH) therapy is effective for Growth Hormone Deficiency, but for PIGFD, GH treatment is ineffective. This is due to the body’s growth hormone resistance.
For severe PIGFD, the treatment of choice is Increlex (mecasermin), which is a man-made recombinant form of IGF-1.

What Is Increlex?

Increlex contains Mecasermin. It is a laboratory-produced version of human IGF-1. It mimics the natural hormone and directly stimulates growth in children who cannot produce adequate IGF-1 on their own.
The medicine is available internationally under the brand Increlex.

How Does Increlex Work?

Increlex :

• Replaces deficient IGF-1
• Stimulates bone growth
• Improves height velocity
• Supports tissue development

It is given as an under-the-skin injection two times a day, usually right before or right after you eat. Since IGF-1 can act like insulin, it can cause your blood sugar to drop, so it’s important to time the injections with your meals.

Eligibility Criteria for IGF-1 Treatment:

In many countries, including the UK, treatment criteria include:

• Age between 2 and 18 years
• Severe short stature (Height < -3 SDS)
• Extremely low IGF-1 levels
• Normal growth hormone production

In India, pediatric endocrinologists evaluate children based on similar criteria before recommending IGF-1 therapy.

Primary IGF-1 Deficiency Medicine in India:

Currently, Increlex (mecasermin) is approved in countries such as the US, Canada, the UK, and some other parts of Europe. However, it is not yet approved in India.
This raises an important question:

How to Access IGF-1 Medicine in India?

Children with Severe Primary IGF-1 Deficiency in India may access IGF-1 treatment through the Named Patient Program (NPP).
The Named Patient Program allows patients to legally import medicines that are not yet approved locally, provided:

• There is a valid prescription from a qualified doctor
• The medicine is required for a specific patient
• Necessary regulatory documentation is completed

Accessing Primary IGF-1 Deficiency Treatment Through Named Patient Program

In India, specialized import facilitators such as Indian Pharma Network (IPN) assist patients and families in accessing medicines like Increlex under the Named Patient Program.
The process generally involves:

• Doctor’s prescription
• Diagnostic reports confirming SPIGFD
• Regulatory documentation
• Import approval (if applicable)

This pathway ensures that patients can legally access Primary IGF-1 Deficiency medicine in India even if the product is not yet registered domestically.

Why Early Treatment Matters?

Early diagnosis and on-time treatment are believed to improve growth outcomes. Inadequate or poorly timed intervention may limit the total possible gain in height.
When children undergo IGF-1 therapy, they may have:

• Improved growth velocity
• Better height results over time
• Increased physical development

Continue follow-up with a pediatric endocrinologist is important to monitor progress and adjust dosage as required.

Accessing Primary IGF-1 Deficiency Treatment in India:

Primary IGF-1 Deficiency is one of the reasons for severe short stature. An example of this is compared to Growth Hormone Deficiency, which needs specific IGF-1 replacement therapy instead of GH therapy.

For patients and families looking to access Primary IGF-1 Deficiency treatment in India, options are available through the Named Patient Program. With proper diagnosis, specialist care, and access to therapies like mecasermin (Increlex), children with Severe Primary IGF-1 Deficiency can be treated.

If you think your child might have unusual growth patterns, make sure to see a pediatric endocrinologist to evaluate your child. Early assessment can make a greater difference with your child.

References & Sources:

The following authoritative medical resources were used in preparing this article:

1. National Organization for Rare Disorders (NORD) – Primary IGF-1 Deficiency
2. MedlinePlus – Insulin-like Growth Factor 1 (IGF-1)
3. European Medicines Agency (EMA) – Mecasermin (Increlex) Product Information
4. British Society for Paediatric Endocrinology and Diabetes (BSPED) Guidelines
5. National Institutes of Health (NIH) – Laron Syndrome Overview
6. Endocrine Society Clinical Practice Guidelines – Evaluation of Short Stature