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Quinn, 14
Quinn’s mother, Kara, started noticing symptoms of hypophosphatasia (HPP) in infancy. Does Quinn’s story remind you of any of your patients? Individual results and experiences may vary. “HPP has always been a part of Quinn’s life. It’s a part of who he is...he has dreams, and he won’t let having HPP stop him from accomplishing big things.” — Kara, Quinn’s mother
Medical history
- Initial signs/symptoms presented as large head at newborn checkup, missed milestones, and loss of teeth by 3 years old
- Previously diagnosed with plagiocephaly and macrocephaly at first newborn checkup
- Temporarily on calcium-restricted diet due to nephrocalcinosis
- HPP first suspected by pediatric dentist after tooth loss
- Path to diagnosis: dentist, metabolic bone disease specialist
- Confirmed HPP diagnosis from childhood symptoms (missed milestones, early loss of teeth), and low ALP levels
Diagnostic evidence
- Ultrasound of head at newborn checkup after diagnosis of plagiocephaly/macrocephaly
- Dental records helpful in confirming HPP diagnosis
- ALP levels measured at 10% of normal range at age 3
- Genetic testing for ALPL gene mutation
Family history
- No family history of HPP
Starting on STRENSIQ
- Started on STRENSIQ in 2015, age 7
- Currently self-administers subcutaneous injection of STRENSIQ 3x/week
Experience on STRENSIQ
- Since starting STRENSIQ, Quinn’s mother reports an improvement in Quinn’s bone density over time as documented in a year-by-year comparison by a metabolic bone disease specialist
- Reports good overall experience with STRENSIQ
- When starting STRENSIQ, Kara found supervised injection practice (with an empty syringe on a stuffed animal) allowed Quinn to better handle injection fear
- Quinn and Kara note improved mobility, seen clinically as a yearly improvement in his 6-minute walk test
- Change from 76th to 77th percentile in weight and height, respectively, in 2017 to 98th and 97th percentile in 2022
- Today, Quinn is enjoying new opportunities such as adaptive sports, and was able to move from daily walker use/occasional wheelchair use, to only ankle braces in 2019
Larry, 50
Larry discovered his own chronic symptoms were caused by HPP while caring for his 1-year-old son who also has the disease. Explore how a diagnosis of HPP connected symptoms throughout his life. Individual results and experiences may vary. “It was another person living with HPP who helped me on my journey to diagnosis. I had explanations for all of my injuries...and you know what she said? She said ‘So does everyone here.‘ ” — Larry
Medical history
- Initial signs/symptoms presented as breathing problems as an infant, multiple “non-suspicious” fractures as a teenager, chronic muscle pain in adolescence/adulthood, and pneumonia ~3x/year in adulthood
- Previously misdiagnosed with deteriorating bone disease in adolescence (8th grade)
- Diagnosed with HPP at age 43 while caring for his 1-year-old son who has HPP
- Confirmed HPP diagnosis from childhood symptoms (experienced injuries, fractures and chronic muscle pain as a teenager), and blood work
Diagnostic evidence
- MRIs of neck, ribs, and leg due to fractures throughout life
- HPP diagnosis confirmed through blood work
Family history
- Larry is a caregiver to his son who was diagnosed with HPP at age 1
Starting on STRENSIQ
- Started STRENSIQ in 2016, age 43
- Self-administers subcutaneous injection of STRENSIQ 3x/week
Experience on STRENSIQ
- Since starting STRENSIQ, Larry reports reduced skeletal and/or muscular pain and was able to start exercising again 4 months after starting treatment
- Reports good overall experience with STRENSIQ, including drug accessibility
- Larry rotates injection sites to manage side effects like irritation or swelling associated with STRENSIQ
- Today, Larry enjoys spending time with his family and, since starting treatment, has returned to his love of weightlifting when he is able to, taking care to avoid injuring himself
Carol, 67
Carol pushed to maintain an active lifestyle despite living with chronic HPP symptoms most of her life. Consider if Carol’s story is similar to any of your patients Individual results and experiences may vary. “HPP does not define me. What does define me is my strength and determination to never give up.” — Carol
Medical history
- Initial signs/symptoms presented as foot pain, bowed legs, scoliosis, and serious dental abnormalities (cavities, brittle/misshapen teeth, braces in 1st grade)
- Misdiagnosed with gout (instead of HPP-related pseudogout) and prescribed steroid therapy; chronic foot pain attributed to stress fractures
- Diagnosed with HPP at age 63
- Path to diagnosis: endocrinologist, geneticist
- Confirmed HPP diagnosis from childhood symptoms (early dental issues, orthodontic braces in 1st grade, musculoskeletal symptoms), genetic testing, and persistently low ALP levels
Diagnostic evidence
- Intermittent X-rays taken throughout adulthood by different specialists (orthopedist, podiatrist, endocrinologist)
- Genetic testing used to confirm ALPL gene mutation; blood work and X-rays used while testing for and confirming HPP
- Persistently low ALP levels of 17-27 U/L (reported from March to October 2018)
Family history
- No family history of HPP
Starting on STRENSIQ
- Started STRENSIQ in 2019, age 63
- Self-administers subcutaneous injection of STRENSIQ 3x/week
Experience on STRENSIQ
- Since starting STRENSIQ, Carol reports that her blood work results (ALP and B6 levels specifically) are consistently improving
- Reports good overall experience with STRENSIQ, including drug accessibility
- Before starting STRENSIQ, Carol discussed the possible risks and benefits of treatment with her doctor, including potential side effects
- Today, Carol remains active with a newfound appreciation for her personal limits and increased clarity around her HPP symptoms. Spreading HPP awareness, including self-advocacy for patients seeking a diagnosis, is especially important to Carol
Initiate STRENSIQ under the supervision of a healthcare provider with appropriate medical monitoring and support measures. If a severe hypersensitivity reaction (e.g., anaphylaxis) occurs, discontinue STRENSIQ and immediately initiate appropriate medical treatment, including use of epinephrine. Inform patients of the symptoms of life-threatening hypersensitivity reactions, including anaphylaxis and to seek immediate medical care should symptoms occur [see Warnings and Precautions (5.1)].
- Life-threatening hypersensitivity reactions, including anaphylaxis, have been reported in STRENSIQ-treated patients. Signs and symptoms consistent with anaphylaxis included difficulty breathing, choking sensation, nausea, periorbital edema, and dizziness. These reactions have occurred within minutes after subcutaneous administration of STRENSIQ and have been observed more than 1 year after treatment initiation. Other hypersensitivity reactions have also been reported in STRENSIQ-treated patients, including vomiting, fever, headache, flushing, irritability, chills, erythema, rash, pruritus, and oral hypoesthesia. Consider the risks and benefits of re-administering STRENSIQ following a severe reaction. If the decision is made to re-administer, monitor patients for a reoccurrence of signs and symptoms of a severe hypersensitivity reaction.
- Lipodystrophy: Localized lipodystrophy, including lipoatrophy and lipohypertrophy has been reported at injection sites after several months in patients treated with STRENSIQ in clinical trials. Advise patients to follow proper injection technique and to rotate injection sites.
- Ectopic Calcifications: Patients with HPP are at increased risk for developing ectopic calcifications. Events of ectopic calcification, including ophthalmic (conjunctival and corneal) and renal (nephrocalcinosis, nephrolithiasis), have been reported in the clinical trial experience with STRENSIQ. There was insufficient information to determine whether the reported events were consistent with the disease or due to STRENSIQ. No visual changes or changes in renal function were reported resulting from the occurrence of ectopic calcifications.
Ophthalmology examinations and renal ultrasounds are recommended at baseline and periodically during treatment with STRENSIQ to monitor for signs and symptoms of ophthalmic and renal ectopic calcifications and for changes in vision or renal function. - Possible Immune-Mediated Clinical Effects: In clinical trials, most STRENSIQ-treated patients developed anti-asfotase alfa antibodies and neutralizing antibodies which resulted in reduced systemic exposure of asfotase alfa. In postmarketing reports, some STRENSIQ-treated patients with initial therapeutic response subsequently developed recurrence and worsening in disease-associated laboratory and radiographic biomarkers (some in association with neutralizing antibodies) suggesting possible immune-mediated effects on STRENSIQ’s pharmacologic action resulting in disease progression. The effect of anti-asfotase alfa antibody formation on the long-term efficacy of STRENSIQ is unknown. There are no marketed anti-asfotase alfa antibody tests. If patients experience progression of HPP symptoms or worsening of disease-associated laboratory and imaging biomarkers after a period of initial therapeutic response to STRENSIQ, consider obtaining anti-asfotase alfa antibody testing by contacting STRENSIQ Medical Information at Alexion at 1-888-765-4747 or by email at medinfo@alexion.com. Close clinical follow up is recommended.
- Laboratory tests utilizing alkaline phosphatase (ALP) as a detection reagent could result in erroneous test results for patients receiving treatment due to the presence of asfotase alfa in clinical laboratory samples. Inform laboratory personnel that the patient is being treated with STRENSIQ and discuss use of an alternative testing platform which does not utilize an ALP-conjugated test system.
- Elevated serum ALP measurements detected through clinical laboratory testing are expected in patients receiving STRENSIQ due to circulating concentrations of asfotase alfa. Do not rely on serum ALP measurements for clinical decision making in patients treated with STRENSIQ.
- Pregnancy & Lactation: There are no available data on STRENSIQ use in pregnant women, the presence of STRENSIQ in human milk, or the effects on the breastfed infant or on milk production, to inform a drug associated risk.
STRENSIQ® (asfotase alfa) is indicated for the treatment of patients with perinatal/infantile- and juvenile-onset hypophosphatasia (HPP).
Please see full Prescribing Information for STRENSIQ (asfotase alfa), including Boxed WARNING regarding hypersensitivity reactions including anaphylaxis.