For people living with rare disease, the hope for a cure is always present. A cure is the ultimate goal, something patients wish for, advocate for and hold onto throughout their journey.

Over time, patients begin to see the realities that shape rare disease research. Small patient populations, limited existing research and gaps in scientific understanding can make the path to a cure long and uncertain. As this becomes clearer, the way people living with rare disease think about progress begins to change.

While the search for a cure continues, patients recognize that progress can take more than one form. Examples include a diagnostic tool that shortens the path to answers, a treatment that can slow or stop disease progression or a therapy that preserves function or reduces complications. These innovations may not cure a disease, but they can meaningfully alter how it unfolds.

What Progress Looks Like Along the Way

For individuals and families, these gains shape daily life in practical ways. Earlier diagnosis can reduce years of uncertainty, while treatments that stabilize symptoms or slow progression can influence decisions about work, school and independence. Living with rare disease still means navigating uncertainty, but diagnosis changes its shape rather than removing it. Decisions about care and the future are often made with incomplete information, requiring patients to balance hope with realism as they plan their lives.

Progress in rare disease depends on sustained effort across many parts of the ecosystem. Researchers, clinicians and life science companies contribute to advancing scientific understanding and developing therapies, often over long timelines and with limited data. Research reaches patients only after years of clinical development and regulatory review, underscoring the complexity of translating science into care.

Across California and beyond, Biocom member companies are actively engaged in the research, development and regulatory approval of therapies for rare and pediatric diseases. These efforts span a wide range of disease areas and scientific approaches, reflecting the long timelines and sustained investment often required in rare disease drug development. The companies listed below currently have FDA-approved therapies on the market, representing the outcome of years of clinical research and regulatory review.

Why These Steps Matter

For patients, the availability of diagnostic tools and treatments shapes everyday decisions about care, monitoring and long-term planning. Existing options influence expectations for the future and are considered alongside continued advocacy for new research and therapies, with decisions often specific to each disease and individual situation.

Living with a rare disease means holding more than one truth at the same time. The goal of a cure remains, while patients also navigate what is currently available and continue to push for what does not yet exist.

Examples of Biocom Member Companies with FDA-Approved Rare Disease Therapies

Ascendis Pharma has FDA-approved therapies including Skytrofa for pediatric growth hormone deficiency and Yorvipath for hypoparathyroidism.

Astellas Pharma has FDA approval for Viltepso for Duchenne muscular dystrophy in patients with exon 53 skipping mutations.

BioMarin Pharmaceutical has FDA-approved therapies including Vimizim Naglazyme Brineura and Voxzogo for rare genetic conditions.

Bluebird Bio has FDA-approved gene therapies including Zynteglo Skysona and Lyfgenia for rare genetic diseases.

Emmaus Life Sciences has FDA approval for Endari for sickle cell disease.
Kyowa Kirin has FDA-approved therapies including Crysvita for X-linked hypophosphatemia and Poteligeo for rare T-cell lymphomas.

Novartis Pharmaceuticals has FDA-approved therapies including Zolgensma for spinal muscular atrophy and Ilaris for rare autoinflammatory diseases.

Rigel Pharmaceuticals has FDA-approved therapies including Tavalisse for chronic immune thrombocytopenia and Rezlidhia for a rare subtype of acute myeloid leukemia.

Sentynl Therapeutics has FDA approval for Tegsedi for hereditary transthyretin amyloidosis.

Stemline Therapeutics has FDA approval for Elzonris for blastic plasmacytoid dendritic cell neoplasm.

Travere Therapeutics has FDA-approved therapies including Thiola and Thiola EC for cystinuria.

UCB has FDA-approved therapies including Crysvita for X-linked hypophosphatemia alongside treatments for epilepsy.

Ultragenyx has FDA-approved therapies including Crysvita Dojolvi Evkeeza and Mepsevii for rare genetic diseases.

United Therapeutics has FDA-approved therapies including Remodulin Tyvaso and Orenitram for pulmonary arterial hypertension.