Developing and Delivering Meaningful Therapies for Patients

Our biopharmaceuticals, in development or commercially available, are designed to address a variety of rare diseases. Explore this page to learn more about each.

Proof of Concept (PoC)

Pre-Clinical

Phase I

Phase II

Phase III

Regulatory Submission

Approved

Copper Histidinate — For Menkes Disease

Copper Histidinate — For Menkes Disease

Proof of Concept (PoC)

Pre-Clinical

Phase I

Phase II

Phase III

Regulatory Submission

Approved

Stage: Approved

About Menkes Disease

Menkes disease is a rare X-linked pediatric disease caused by gene mutations of the copper transporter ATP7A. The condition is characterized by sparse, depigmented, kinky hair; failure to thrive; low/poor muscle tone (hypotonia); connective tissue disorders; and severe neurological symptoms such as seizures. If untreated, mortality for Menkes disease is high, with low survival beyond age 3. Currently, there is only one FDA-approved treatment for Menkes disease.

To learn more about Menkes disease, please visit aboutmenkes.com/hcp.

Copper Histidinate

Copper histidinate is a copper replacement product for patients with Menkes disease.

Lonafarnib — For Hutchinson-Gilford Progeria Syndrome and Processing-Deficient Progeroid Laminopathies

Lonafarnib — For Hutchinson-Gilford Progeria Syndrome and Processing-Deficient Progeroid Laminopathies

Proof of Concept (PoC)

Pre-Clinical

Phase I

Phase II

Phase III

Regulatory Submission

Approved

Stage: Approved

About Progeria and Processing-Deficient Progeroid Laminopathy

Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), and processing-deficient Progeroid Laminopathies (PDPL) are ultra-rare, fatal, genetic, premature aging diseases that accelerate mortality in young patients. In the United States, the prevalence of HGPS is 1 in 20 million, and the prevalence of progeroid laminopathies, which include both processing-deficient and processing-proficient subtypes, is 1 in 36.4 million.

HGPS is caused by a point mutation in the LMNA gene, yielding the farnesylated aberrant protein progerin. PDPL is caused by a heterozygous LMNA mutation with progerin-like protein accumulation or homozygous or compound heterozygous ZMPSTE24 mutations. Both HGPS and PDPL result in premature, extensive cardiovascular disease, which is the primary cause of death in nearly all patients.

For more information about HGPS and PDPL, please visit progeriaresearch.org.

Lonafarnib

Lonafarnib is a farnesyltransferase inhibitor indicated for the treatment of HGPS and processing-deficient Progeroid Laminopathies with either a heterozygous LMNA mutation with progerin-like protein accumulation or a homozygous or compound heterozygous ZMPSTE24 mutation in patients 12 months and older with a body surface area of 0.39 m2 and above.

Fosdenopterin — For MoCD Type A

Fosdenopterin — For MoCD Type A

Proof of Concept (PoC)

Pre-Clinical

Phase I

Phase II

Phase III

Regulatory Submission

Approved

Stage: Approved

About MoCD Type A

MoCD Type A is an ultra-rare and progressive condition. It is known to impact fewer than 150 patients globally and has a median survival of 4 years. MoCD Type A presents shortly after birth, often with severe encephalopathy and intractable seizures.

For more information, visit aboutmocdtypea.com/hcp.

Fosdenopterin

Fosdenopterin is a cyclic pyranopterin monophosphate (cPMP) for patients with MoCD Type A.

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